Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum

J Dermatol. 2023 Feb;50(2):e85-e86. doi: 10.1111/1346-8138.16618. Epub 2022 Oct 25.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome Sequencing
  • Humans
  • Mutation
  • Pedigree
  • Pseudoxanthoma Elasticum* / complications
  • Pseudoxanthoma Elasticum* / diagnosis
  • Pseudoxanthoma Elasticum* / genetics
  • Retinitis Pigmentosa* / diagnosis
  • Retinitis Pigmentosa* / genetics